RINL (Q6ZS11) variants and mutations

RINL (also known as Q6ZS11) is a human protein-coding gene encoding a ras and Rab interactor-like protein. A protein thought to act as a guanine-nucleotide exchange factor for RAB5A and RAB22A, helping regulate endocytosis and intracellular membrane transport. Its proposed exchange-factor activity is supported partly by similarity to related proteins. This analysis covers 996 RINL variants and mutations. Of these, 88% have computational variant effect predictions. Disease context includes BENTA disease, hereditary neutrophilia, and immunodeficiency 84. Example RINL variants include A2T, Q3*, and D6A.

Variant analysis overview

Gene: RINL
Protein: Q6ZS11
UniProt accession: Q6ZS11
Organism: Homo sapiens
Variants analyzed: 996
Variant scope: all variants
Completed: 2026-09-23

Variant and mutation evidence

Variant composition: 650 unspecified-consequence records; 1 stop retained variant; 2 stop lost; 228 missense variants; 113 synonymous variants; 25 frameshift variants; 9 stop-gained variants; 2 splice-region variants; 4 in-frame deletions; 2 substitution
Prediction scores: 877 variants have prediction scores (88% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: BENTA disease, hereditary neutrophilia, immunodeficiency 84, combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency T+ B+ due to partial RAG1 deficiency, activated PI3K-delta syndrome, autoimmune lymphoproliferative syndrome type 4, RAS-associated autoimmune leukoproliferative disease, combined immunodeficiency due to ZAP70 deficiency, severe combined immunodeficiency due to LAT deficiency, pulmonary alveolar proteinosis with hypogammaglobulinemia, immunodeficiency 64.

Protein structure and variant hotspots

Protein features: 1 domains.
Structural context: 467 variants have structural context.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable RINL variants

Examples include A2T, Q3*, D6A, D6G, D6V, E14D, G15E, G15R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

RINL analysis run — RINL (996 variants) — completed 2026-09-23